Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MCF2L_chr13_112964214_113104742	113089233	T T	TTCTCATC others(203): Show TTCTCATCCAGCCCGTCCGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGA AGCAGGAGGGTGGGCGTCTGCTCTCATCCAGTCCGTCCGGGTTTAACTTA GAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGTCTGCTCTCATCCA GCCCGTCTGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGG TGGGCGTCTGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp2 HG03098.hp2 HG02486.hp1 HG02602.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0003t0001g0053 a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0003t0001g0053	3	116	0.0259	210	c.283 others(227): Show c.2835-313_2835-312insGTCTGCTCTCATCCAGTCCGTCCGGGTT TAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGTCTGCTC TCATCCAGCCCGTCTGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGC AGGAGGGTGGGCGTCTGCTCTCATCCAGCCCGTCCGGGTTTAACTTAGAA GTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113089390	C C	CGGGTTTA others(203): Show CGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGT CTGCTCTCATCCAGCCCGTCTGGGTTTAACTTAGAAGTGTGTGGCCCCTC AGAAGCAGGAGGGTGGGCGTCTGCTCTCATCCAGCCCGTCCGGGTTTAAC TTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGTCTGCTCTCAT CCAGTCCGTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01257.hp2 others(1): Show HG01109.hp1 HG01175.hp2 HG01257.hp2 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0004 a0001c0016t0004 a0001c0004t0004 a0001c0016t0004	a0001c0004t0004g0046 a0001c0004t0004g0084 a0001c0004t0004g0097 others(1): Show a0001c0004t0004g0046 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0016t0004g0085	4	116	0.0345	210	c.283 others(227): Show c.2835-157_2835-156insCCCGTCTGGGTTTAACTTAGAAGTGTGT GGCCCCTCAGAAGCAGGAGGGTGGGCGTCTGCTCTCATCCAGCCCGTCCG GGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGTCT GCTCTCATCCAGTCCGTCTGGGTTTAACTTAGAAGTGTGTGGCCCCTCAG AAGCAGGAGGGTGGGCGTCTGCTCTCATCCAG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCTP2_chr15_94226561_94488952	94243318	T T	TACATACG others(203): Show TACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATG CGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTA TGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACA CACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATG CGTATGTACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02717.hp1 others(4): Show HG02109.hp1 HG02615.hp1 HG02717.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0003	a0001c0001t0032 a0001c0002t0001 a0001c0002t0017 others(3): Show a0001c0001t0032 a0001c0002t0001 a0001c0002t0017 a0001c0006t0009 a0001c0013t0037 a0002c0003t0008	a0001c0001t0032g0081 a0001c0002t0001g0246 a0001c0002t0017g0245 others(4): Show a0001c0001t0032g0081 a0001c0002t0001g0246 a0001c0002t0017g0245 a0001c0006t0009g0088 a0001c0013t0037g0224 a0002c0003t0008g0038 a0002c0003t0008g0042	7	276	0.0254	210	c.-66 others(229): Show c.-66+11683_-66+11684insCACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTA TATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATA CGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTATATGCGTATGTACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243424	T T	TATGCGTA others(203): Show TATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATA CGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTA TATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATA CGTATGCGTAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0022 a0004c0008t0022	a0004c0008t0022g0053 a0004c0008t0022g0053	1	276	0.0036	210	c.-66 others(229): Show c.-66+11773_-66+11774insCACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTA TATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATA CGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTACATGCGTATGTACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(203): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	292	0.0034	210	c.377 others(227): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(203): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01258.hp2 others(1): Show HG00558.hp2 HG00609.hp2 HG01258.hp2 HG02572.hp1	a0004 a0020 a0086 others(1): Show a0004 a0020 a0086 a0091	a0004c0004 a0020c0041 a0086c0062 others(1): Show a0004c0004 a0020c0041 a0086c0062 a0091c0071	a0004c0004t0002 a0020c0041t0002 a0086c0062t0011 others(1): Show a0004c0004t0002 a0020c0041t0002 a0086c0062t0011 a0091c0071t0039	a0004c0004t0002g0104 a0020c0041t0002g0083 a0086c0062t0011g0147 others(1): Show a0004c0004t0002g0104 a0020c0041t0002g0083 a0086c0062t0011g0147 a0091c0071t0039g0061	4	292	0.0137	210	c.377 others(227): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(203): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG01993.hp2 others(4): Show HG00438.hp1 HG01934.hp1 HG01993.hp2 HG02148.hp1 NA18747.hp2 NA18990.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	400	0.0175	210	c.26 others(221): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(203): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	210	c.26 others(221): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(203): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	210	c.26 others(221): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(203): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG00280.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	400	0.0050	210	c.26 others(220): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(203): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18953.hp1 NA18962.hp1 others(1): Show HG03688.hp1 NA18953.hp1 NA18962.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0105	4	181	0.0221	210	c.107 others(229): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(203): Show TGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGTGGGGACAGTGGTGAATGGAGGGGACAGTGGTGAGTGGGCACGGTAGT GAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTG GTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGAAC AGTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0023 a0023	a0023c0051 a0023c0051	a0023c0051t0001 a0023c0051t0001	a0023c0051t0001g0071 a0023c0051t0001g0071	1	286	0.0035	210	c.153 others(229): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGGGGACAGTG GCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAATGGAGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGT GGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGA CAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43432061	C C	CGGGGCTC others(203): Show CGGGGCTCCCAGAGGGTAGACTGTCGGGTCCCTAGCAGCTCGGGGGGTGG CATTGTGCTCCCTGTCTCTCCCATCTTCATCTCTCTTTGTCTCTTTGACT TAGTCTTTGTCACCTTATGACATCTTCAAAACCTCAGAGGCACACAGAGA GAGAGAGAGAGAGAGAGAGACAAACACAGAGAGAAAGAAAGGGAGGCTCC TCTGCTAGGCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0203 a0001c0007t0002g0203	1	250	0.0040	210	c.225 others(227): Show c.225-2928_225-2927insGTGGCATTGTGCTCCCTGTCTCTCCCAT CTTCATCTCTCTTTGTCTCTTTGACTTAGTCTTTGTCACCTTATGACATC TTCAAAACCTCAGAGGCACACAGAGAGAGAGAGAGAGAGAGAGAGACAAA CACAGAGAGAAAGAAAGGGAGGCTCCTCTGCTAGGCGGGGGCTCCCAGAG GGTAGACTGTCGGGTCCCTAGCAGCTCGGGGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(203): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATATGTATATATATGTGTA TATATATGTATATATATATATGTATATATATGTATATATATATATGTATA TATATATATAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04184.hp2 NA18948.hp2 others(12): Show HG03017.hp1 HG04184.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18968.hp1 NA18979.hp1 NA18980.hp1 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19011.hp1 NA19062.hp2 NA19076.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0099 a0002c0003t0001g0001 a0002c0003t0001g0025 others(4): Show a0001c0001t0001g0099 a0002c0003t0001g0001 a0002c0003t0001g0025 a0002c0003t0001g0062 a0002c0003t0001g0091 a0002c0003t0002g0262 a0002c0003t0003g0026	15	410	0.0366	210	c.484 others(225): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATATACATATAT ATACATATATATATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(203): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TGTATATATATGTATATATATATGTATATATATATGTATATATATGTGTA TATATATGTATATATATATATGTATATATATGTATATATATATATGTATA TATATATATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18951.hp1 NA18944.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0080 a0002c0003t0001g0087 a0002c0003t0001g0080 a0002c0003t0001g0087	2	410	0.0049	210	c.484 others(225): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATACACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATATACATATAT ATACATATATATATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCAGC others(203): Show GCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGC CCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCC CAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCGGCCCCACCCCCA CCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0336 a0002c0002t0002g0336	1	388	0.0026	210	c.43 others(219): Show c.431_*432insCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCAC CCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCC CCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCC GGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		303		chr16	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCAGC others(203): Show GCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGC CCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCC CAGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCG GCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	388	0.0026	210	c.43 others(219): Show c.431_*432insCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCAC CCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCC CCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCC GGCCCCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		303		chr16	TogoVar
MSLN_chr16_755734_773862	769170	G G	GCCCCGGC others(203): Show GCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCAGC CCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCGGCCCCAGCCCCAGCCC CGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG GCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0344 a0002c0002t0002g0344	1	388	0.0026	210	c.43 others(219): Show c.437_*438insCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGG CCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCGGCC CCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCC GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		309		chr16	TogoVar
MUC4_chr3_195741771_195816929	195767530	G G	GCCACCAC others(203): Show GCCACCACCATCATCACCATCACCATCACCACCACCATCATCACCACCAT CACCACCACCACCACCAACACTACCACCACCATCACCATCACCACCACCA TCACCATCACCACCACCATCACCATCACCACCACCATCACCATCACCACC ACCATCGCCACCACCATCATCACCATCACCATCACCACCACCATCATCAC CACCATCACCA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0100 a0100	a0100c0120 a0100c0120	a0100c0120t0001 a0100c0120t0001	a0100c0120t0001g0091 a0100c0120t0001g0091	1	249	0.0040	210	c.135 others(229): Show c.13530-780_13530-779insTGGTGATGGTGGTGATGATGGTGGTG GTGATGGTGATGGTGATGATGGTGGTGGCGATGGTGGTGGTGATGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGG TGATGGTGGTGGTAGTGTTGGTGGTGGTGGTGGTGATGGTGGTGATGATG GTGGTGGTGATGGTGATGGTGATGATGGTGGTGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195775770	C C	CCATACCT others(203): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACACCCATAACTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACGGCCATA CCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0081 a0081	a0081c0189 a0081c0189	a0081c0189t0011 a0081c0189t0011	a0081c0189t0011g0206 a0081c0189t0011g0206	1	249	0.0040	210	c.129 others(231): Show c.12944-1466_12944-1465insACTGTGGAAGGTATGGCCGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGTGGAAGTTATGGGTGTGGAAGGTATGGATGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776402	A A	ATACCTTC others(203): Show ATACCTTCCACGGCCATACCTTCCACACCCTTACCTTCCACACCCATACC TTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCA CGGCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACGGCCATACC TTCCACACCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp2 HG01192.hp2 HG01346.hp2	a0058 a0096 a0058 a0096	a0058c0200 a0096c0130 a0058c0200 a0096c0130	a0058c0200t0015 a0096c0130t0004 a0058c0200t0015 a0096c0130t0004	a0058c0200t0015g0234 a0096c0130t0004g0238 a0058c0200t0015g0234 a0096c0130t0004g0238	2	249	0.0080	210	c.129 others(231): Show c.12943+1900_12943+1901insAGGGTGTGGAAGGTATGGCCGTGG AAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGT ATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGG TGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGG AAGGTAAGGGTGTGGAAGGTATGGCCGTGGAAGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776505	C C	CCATACCT others(203): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0045 a0045	a0045c0155 a0045c0155	a0045c0155t0002 a0045c0155t0002	a0045c0155t0002g0025 a0045c0155t0002g0025	1	249	0.0040	210	c.129 others(231): Show c.12943+1797_12943+1798insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTG TGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777149	T T	TCCATACC others(203): Show TCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTT CCACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG00741.hp2 HG01256.hp1	a0090 a0091 a0090 a0091	a0090c0186 a0091c0181 a0090c0186 a0091c0181	a0090c0186t0003 a0091c0181t0003 a0090c0186t0003 a0091c0181t0003	a0090c0186t0003g0220 a0091c0181t0003g0214 a0090c0186t0003g0220 a0091c0181t0003g0214	2	249	0.0080	210	c.129 others(231): Show c.12943+1153_12943+1154insGTGTGGAAGGTATGACTGTGGAAG GTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGT GGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAG GTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777388	A A	AGTCATAC others(203): Show AGTCATACCTTCCACGCCCATACCTTCCACAGTCATACCTTCCACACCCA TACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCT TCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCAC AGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCA TACCTTCCACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0107 a0107	a0107c0041 a0107c0041	a0107c0041t0001 a0107c0041t0001	a0107c0041t0001g0179 a0107c0041t0001g0179	1	249	0.0040	210	c.129 others(229): Show c.12943+914_12943+915insCGTGGAAGGTATGGGTGTGGAAGGTA TGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGT GTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTA TGACTGTGGAAGGTATGGGCGTGGAAGGTATGAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777495	C C	CCATACCT others(203): Show CCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA TCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0050 a0050	a0050c0147 a0050c0147	a0050c0147t0004 a0050c0147t0004	a0050c0147t0004g0231 a0050c0147t0004g0231	1	249	0.0040	210	c.129 others(229): Show c.12943+807_12943+808insACTGTGGAAGATATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTG GAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGCCGTGGAAGG TATGGGTGTGGAAGGTATGGCCGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777598	A A	AGTCATAC others(203): Show AGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCA TACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCT TCCACATCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCAC ACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCA TACCTTCCACG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0084 a0084	a0084c0187 a0084c0187	a0084c0187t0003 a0084c0187t0003	a0084c0187t0003g0216 a0084c0187t0003g0216	1	249	0.0040	210	c.129 others(229): Show c.12943+704_12943+705insCGTGGAAGGTATGGCCGTGGAAGGTA TGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGT GTGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTA TGACTGTGGAAGGTATGGGTGTGGAAGGTATGAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(203): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATAATATATAATATATATAATATATATTATATATATAATA TATAATATATATTATATATTATAATATATAATATATATTATATATATAAT ATATATTATATATAATATATATTATATATATATAATATATATAATATATA TTTTAAATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	334	0.0030	210	c.547 others(227): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATATATATAATATATATTATATATAATATATATTATATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATATATATAATAT ATATTATATATATTATATATTATATATATTATATATATAATATATATTAT ATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYO3B_chr2_170173147_170660167	170648633	T T	TATATATA others(203): Show TATATATATTATATTCTATATAATATATATTATATTCTATATAATATATA TTATATTCTATATAATATATATTATATTCTATATAATATATATTATATTC TATATAATATATATTATATTCTATATAATATATATTATATTCTATATAAT ATATATTATATTCTATATAATATATATTATATTCTATATAATATATATTA TATTCTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG02258.hp1 HG03139.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0003 a0012c0024t0014 a0012c0024t0003 a0012c0024t0014	a0012c0024t0003g0074 a0012c0024t0014g0126 a0012c0024t0003g0074 a0012c0024t0014g0126	2	174	0.0115	210	c.373 others(229): Show c.3734-2907_3734-2906insATATTATATTCTATATAATATATATT ATATTCTATATAATATATATTATATTCTATATAATATATATTATATTCTA TATAATATATATTATATTCTATATAATATATATTATATTCTATATAATAT ATATTATATTCTATATAATATATATTATATTCTATATAATATATATTATA TTCTATATAATATATATTATATTCTATATAATAT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7A_chr11_77123246_77220241	77197793	G G	GCCTACAA others(203): Show GCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTG CTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCT GCAACGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAAT TCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCT CCAGCCCACAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0319 a0011c0028t0001g0319	1	356	0.0028	210	c.444 others(227): Show c.4441+196_4441+197insCTACAAATTCTCAGGTACCCCGCAGCCT GCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAAT TCTCAGGTACCCCGCAGCCTGCAACGCTCCCAGTCCCTTGCTCTGTAGCT CCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCC CAGTCCCTTGCTCTGTAGCTCCAGCCCACAAC	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	33/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYT1L_chr2_1784113_2336275	2034868	A A	AACAATCT others(203): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGTGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCAACAATCTCCACCCTCCAATGAGGGTGCAGAAGAGAGCTCCT AACTTCTCCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0092 a0001c0005t0012g0092	1	104	0.0096	210	c.-15 others(231): Show c.-158+19109_-158+19110insGGGGAGAAGTTAGGAGCTCTCTTC TGCACCCTCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTCTC TTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTC TCTTCTGCACCCACATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAG CTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(203): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCCTCCCC ACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCC CACCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG03239.hp2 NA21309.hp1 HG01168.hp1 HG03239.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	3	414	0.0073	210	c.-15 others(221): Show c.-1532_-1531insGGAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAG GAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAGGAAGAGGGTGGGGCTGG GTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGG TAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGG GGTGGGGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(203): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCTTCCCC ACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCC CACCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	414	0.0024	210	c.-15 others(221): Show c.-1532_-1531insGGAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAG GAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAAGAAGAGGGTGGGGCTGG GTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGG TAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGG GGTGGGGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NEXN_chr1_77883624_77948895	77888008	C C	CTTCTTCT others(203): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	268	0.0037	210	c.-80 others(219): Show c.-804_-803insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTTCTT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		615		chr1	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(203): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACC TCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAAGCCCAC CTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01975.hp2 others(1): Show HG00280.hp1 HG01070.hp2 HG01975.hp2 NA19001.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0012 a0001c0001t0041 a0002c0002t0121 others(1): Show a0001c0001t0012 a0001c0001t0041 a0002c0002t0121 a0003c0003t0034	a0001c0001t0012g0298 a0001c0001t0041g0236 a0002c0002t0121g0155 others(1): Show a0001c0001t0012g0298 a0001c0001t0041g0236 a0002c0002t0121g0155 a0003c0003t0034g0209	4	366	0.0109	210	c.-16 others(231): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCC CACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAG CCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819647	G G	GTATATAC others(203): Show GTATATACATGCGTATATATGTATGTATACGTATATACATGCGTATATAT GTATGTATACGTATATACATGCGTATATATGTATGTATATGTATATATAC ACACACGTATATATATGTATGTATACGTATATATATATACACACACGTAT ATATATGTATGTATACGTATATATATATACACACACGTATATATATGTAT GTATACGTATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0141 a0001c0003t0011g0141	1	416	0.0024	210	c.289 others(227): Show c.289+4238_289+4239insTATACGTATACATACATATATATACGTG TGTGTATATATATATACGTATACATACATATATATACGTGTGTGTATATA TATATACGTATACATACATATATATACGTGTGTGTATATATACATATACA TACATATATACGCATGTATATACGTATACATACATATATACGCATGTATA TACGTATACATACATATATACGCATGTATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CCCTCCCC others(203): Show CCCTCCCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCCTCCC CCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0011 a0000c0008t0011	a0000c0008t0011g0048 a0000c0008t0011g0048	1	350	0.0029	210	c.55 others(221): Show c.5578_*5579insCCTCCCCCCTCCCTCCCCCTCCCCCTCCCTCCCC CTCCCCCCTCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4863		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132150232	A A	ATACCACA others(203): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	294	0.0034	210	c.902 others(225): Show c.902-749_902-748insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(203): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02818.hp1 HG03471.hp2 others(3): Show HG00544.hp2 HG02818.hp1 HG03471.hp2 HG03540.hp2 HG03831.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 a0001c0001t0023 a0002c0002t0002	a0001c0001t0002g0051 a0001c0001t0003g0115 a0001c0001t0009g0082 others(3): Show a0001c0001t0002g0051 a0001c0001t0003g0115 a0001c0001t0009g0082 a0001c0001t0019g0050 a0001c0001t0023g0168 a0002c0002t0002g0040	6	170	0.0353	210	c.175 others(231): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(203): Show AAAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	208	0.0048	210	c.-10 others(231): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NSMF_chr9_137442570_137464334	137450479	T T	TGCCTCTT others(203): Show TGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTC CCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCC CTTTGATCTCCCCCACCACACGCCTCTTCCCCTTGATCTCCCCCACCACA CGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTC CCCCACCACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	414	0.0024	210	c.123 others(227): Show c.1237-225_1237-224insGTGTGGTGGGGGAGATCAAAGGGAAGAG GCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATCA AGGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGTG GGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAG GCGTGTGGTGGGGGAGATCAAAGGGAAGAGGC	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NSMF_chr9_137442570_137464334	137450496	C C	CTCCCCCA others(203): Show CTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCT TCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACC ACACGCCTCTTCCCCTTGATCTCCCCCACCACACGCCTCTTCCCTTTGAT CTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCT TCCCTTTGATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02015.hp1 HG02056.hp1 others(18): Show HG00597.hp1 HG02015.hp1 HG02056.hp1 HG02523.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA19002.hp2 NA19005.hp2 NA19057.hp1 NA19070.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0005 a0001c0001t0001g0120 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0019g0122	21	414	0.0507	210	c.123 others(227): Show c.1237-242_1237-241insAATCAAAGGGAAGAGGCGTGTGGTGGGG GAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCG TGTGGTGGGGGAGATCAAGGGGAAGAGGCGTGTGGTGGGGGAGATCAAAG GGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGG GAGATCAAAGGGAAGAGGCGTGTGGTGGGGGA	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AGAAAGAA others(203): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	296	0.0034	210	c.-18 others(219): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		146		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AGAAAAGA others(203): Show AGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	296	0.0034	210	c.-18 others(219): Show c.-185_-184insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		150		chr13	TogoVar
ODAD3_chr19_11415605_11440121	11425657	A A	ATGCATAC others(203): Show ATGCATACATGCATATACGTATATATGCATACATGCATATACGTATATAT GCATACATGCATATACGTATATATGCATACATGCATATACGTATATATGC ATACATGCATATACGTATATATGCATACATGCATATACGTATATATGCAT ACATGCATATACGTATATATGCATACATGCATATACGTATATATGCATAC ATGCATATACG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 NA19030.hp2 others(2): Show HG02257.hp1 HG02723.hp1 NA19030.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0011t0001	a0001c0001t0001g0221 a0001c0001t0001g0222 a0002c0002t0001g0364 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0002c0002t0001g0364 a0002c0002t0003g0365 a0002c0011t0001g0363	5	398	0.0126	210	c.963 others(225): Show c.963+486_963+487insCGTATATGCATGTATGCATATATACGTATA TGCATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATG CATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCA TGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCATG TATGCATATATACGTATATGCATGTATGCA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF3_chr11_191761_205258	196540	G G	GGGGGGAC others(203): Show GGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGC ATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTG AGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	210	c.-51 others(219): Show c.-515_-514insGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACA TGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGG ACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTG GGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACAT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		220		chr11	TogoVar
OLA1_chr2_174067447_174253532	174092499	T T	TACTAAAA others(203): Show TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0024 a0001c0001t0014g0024	1	262	0.0038	210	c.729 others(229): Show c.729-10436_729-10435insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	7/10			chr2	TogoVar
OR2T12_chr1_248285139_248308424	248306452	C C	CCCCTGAG others(203): Show CCCCTGAGGACTGGAGCCCCCAGAGGACTGGAGCCGCCTGAGGACTGGAG CCGCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCCTGAGGACT GGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCCCCTGAGG ACTGGAGCCGCCTGAGGACTGGAGCCACCTGAGGACTGGAGCCCCCTGAG GACTGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA19002.hp1 NA18979.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	406	0.0049	210	c.-32 others(221): Show c.-3297_-3296insCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAG GGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCTGTCC TCAGGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCAG TCCTCTGGGGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3029		chr1	TogoVar
OTUB1_chr11_63981438_64003412	63998700	C C	CAGAGTCA others(203): Show CAGAGTCAGAGGTGTCTATGCGGAGGGGGGGGCGTGGGAGGGGTGGGGAG AGGGGGGTGGGGGGGGCGGGGAGGGGGGGGGGGGGGGGGGGGGGTGGGTG TTTAGATGTTCGGTTTTGTTTAGTTAGGTTTTCTTTTTGGTCTTTGTGTT GGTTATTGTTTGTTTTTTTGTGGATACTGGTTATTGTAGTTTTTTTTTTT TATTTGTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0001 a0000c0003t0001	a0000c0003t0001g0103 a0000c0003t0001g0103	1	330	0.0030	210	c.11 others(221): Show c.1154_*1155insAGAGTCAGAGGTGTCTATGCGGAGGGGGGGGCGT GGGAGGGGTGGGGAGAGGGGGGTGGGGGGGGCGGGGAGGGGGGGGGGGGG GGGGGGGGGTGGGTGTTTAGATGTTCGGTTTTGTTTAGTTAGGTTTTCTT TTTGGTCTTTGTGTTGGTTATTGTTTGTTTTTTTGTGGATACTGGTTATT GTAGTTTTTTTTTTTTATTTGTGTTT	OTUB1	ENSG00000167770.13	transcript	ENST00000538426.6	protein_coding		289		chr11	TogoVar
P2RX5_chr17_3668227_3701155	3680231	G G	GTCCTCCA others(203): Show GTCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCA CCCTGCGTCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGT CCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACC CTGCGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCGTCC TCCACCCTGCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	362	0.0028	210	c.106 others(227): Show c.1065-448_1065-447insTGCAGGGTGGAGGACGCAGGGTGGAGGA TGCAGGGTGGAGGATGCAGGGTGGAGGACGCAGGGTGGAGGATGCAGGGT GGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATG CAGGGTGGAGGACGCTGGGTGGAGGACGCAGGGTGGAGGATGCAGGGTGG AGGATGCAGGGTGGAGGACACTGGGTGGAGGA	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11			chr17	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(203): Show TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCTCCCCTCTCTCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTC CCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCC CTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	114	0.0088	210	c.-24 others(227): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGA GAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAGAGAGGGGAGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar

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Search Results (Total: 10000 hits)